| Case | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | Total |
| Sex | F | F | M | M | M | F | F | F | 5/3 |
| Facial appearance | |||||||||
| Greek warrior helmet facies | + | + | + | − | + | + | + | + | 7/8 |
| Hypertelorism | + | + | + | + | + | + | + | + | 8/8 |
| Prominent glabella | + | + | + | − | + | + | + | + | 7/8 |
| High forehead | + | + | + | + | + | + | + | + | 8/8 |
| Epicanthus | + | + | − | − | + | − | + | + | 5/8 |
| Broad nose | − | − | + | + | + | + | + | + | 6/8 |
| Beaked nose | − | − | − | − | + | + | + | + | 4/8 |
| Short philtrum | + | + | + | + | + | + | + | + | 8/8 |
| Oligodontia | NI | + | NI | − | NI | NI | Too young | Too young | 1/2 |
| Micrognathia | + | + | + | + | + | + | + | + | 8/8 |
| Downturned shape of the mouth | + | + | + | + | + | + | + | + | 8/8 |
| Cleft lip/palate | −/− | −/− | −/− | −/− | −/− | −/− | −/+ | −/+ | 2/8 |
| Colobomata of iris | − | − | + | − | − | − | + | + | 3/8 |
| Narrow lacrimal ducts | NI | − | NI | − | + | NI | NI | + | 2/4 |
| Strabismus | + | − | + | + | + | + | − | NI | 5/7 |
| Dysplastic ears | + | − | + | + | + | + | + | + | 7/8 |
| Preauricular tag/pit | − | − | − | − | + | − | − | + | 2/8 |
| Birth | |||||||||
| Gestational weeks at birth (weeks, days) | 33 | 38 | 38 | 40, 2 | 38 | 37 | 41, 5 | 37, 2 | 38* |
| Weight (g) | 1180(<P10) | 1630(<P10) | 1900(<P10) | 3660(P75–P90) | 1930(<P10) | 1500(<P10) | 2610(<P10) | 1550(<P10) | 1995* |
| Length (cm) | 39(<P10) | 42(<P10) | 49(P50–P75) | 52(P50–P75) | 47.5(P25–P50) | NI | 48(P10–P25) | 42(<P10) | 46* |
| IUGR | + | + | + | − | + | + | + | + | 7/8 |
| OFC (cm) | 27(<P10) | 30.5(<P10) | 30(<P10) | 4 weeks: 36(P10–P25) | 34.5(P75–P90) | NI | NI | NI | 30.5* |
| Microcephaly at birth | + | + | + | − | − | + | NI | + | 5/7 |
| Postnatal examination | |||||||||
| Age at examination (years, months) | 6 | 12 | 7 | 3, 6 | 5 | 50 | 1, 6 | 0, 2 | |
| Height (cm) | 89(<P3) | 142(P10–P25) | <P3 | 9 (−1SD) | <P3 | 120(<P3) | 72.5(<P3) | 47.5(<P3) | |
| Weight (kg) | 8.0<P3) | 30(P10) | <P3 | 12.6(−2SD) | <P3 | 25(<P3) | 6.9(<P3) | 2.5(<P3) | |
| OFC (cm)/microcephaly (+/−) | 44.2(<P3) | 48(<P3) | + | 47.5(−2SD) | 43(<P3) | 46(<P3) | 42.2(<P3) | 35(<P3) | |
| Mental retardation | Severe | Severe | + | IQ 74 | Severe | Profound | Profound | Profound | |
| Sitting without support (years, months) | 3, 6 | 1, 5 | 3, 6 | 1, 6 | − | − | − | − | 4/8 |
| Walking without support (years, months) | − | 3, 5 | 6 | 3, 6 | − | − | − | − | 3/8 |
| Speech (years, months) | − | − | 7 | 1, 5 | − | − | − | − | 2/8 |
| Hypotonia | + | − | + | + | + | + | − | + | 6/8 |
| Seizures | + | + | + | − | + | + | + | + | 7/8 |
| Congenital heart defects | +(ASDII, Pst) | − | − | +(AVSD)* | +(ASDII, Pst) | − | − | − | 3/8 |
| Clubbing of fingers/toes | − | − | − | − | − | − | − | − | 0/8 |
| Scoliosis | − | − | − | − | + | + | − | − | 2/8 |
| Club feet | − | − | − | − | − | + | + | − | 2/8 |
| Renal anomalies | Renal reflux | − | − | − | NI | NI | − | − | 1/6 |
| Genital anomalies | − | NI | Hypospadias | +† | Hypospadias | − | + | Ventrally spaced anus | 5/7 |
| Sacral dimple | + | NI | NI | + | + | + | + | + | 6/6 |
| Deletion (start–end in Mb) | 8.8 | 1.8–10.1 | 10.9 | 2.7–14.8 | 14.8 | 16.5 | 19.5 | 37 | |
| Diagnosis by | G-banding | 1 Mb array (spectral genomics) | G-banding | G-banding | G-banding | G-banding | G-banding | G-banding | |
| Subtelomeric screening by | 1 Mb array | Interstitial deletion | 1 Mb array | Interstitial deletion | 1 Mb array | 1 Mb array | FISH subtel | 1 Mb array | |
| Last normal clone (interstitial) (Mb) | RP11-138D6 (1.7–1.9) | RP11-444J4 (2.6–2.7) | |||||||
| First deleted clone (interstitial) (Mb) | RP11-1170P16 (1.8–1.9) | RP11-372F2 (2.9–3.1) | |||||||
| Last deleted clone (Mb) | RP11-689P11(8.5–8.7) | RP11-572M24(10.1–10.2) | RP11-518L6(10.9–11.1) | RP11-804D20(14.7–14.9) | RP11-558F7(14.6–14.8) | RP11-142E22(16.5–16.7) | RP11-107E4(19.4–19.6) | RP11-759E10(37.3–37.6) | |
| First normal clone (Mb) | RP11-637J21(8.6–8.8) | RP11-61G19(10.2–10.4) | RP11-775H15(11.0–11.2) | RP11-161H8(14.8–15.0) | RP11-804D20(14.7–14.9) | RP11-714L13(16.6–16.8) | RP11-5N10(19.5–19.7) | RP11-177C12(37.5–37.7) | |
| Cytogenetic band | 4p16.1 | 4p16.1p16.3 | 4p16.1 | 4p15.33p16.3 | 4p15.33 | 4p15.32 | 4p15.31 | 4p14 |
ASD: atrial septal defect; F, female; IUGR, intrauterine growth retardation; M, male; NI, not investigated; OFC, occipitofrontal circumference; Pst, pulmonic stenosis; VSD, ventricular septal defect.
*Average; †see clinical description.